Genetics of Cushing’s disease: an update

@article{PerezRivas2015GeneticsOC,
  title={Genetics of Cushing’s disease: an update},
  author={L G Perez-Rivas and Martin Reincke},
  journal={Journal of Endocrinological Investigation},
  year={2015},
  volume={39},
  pages={29-35}
}
IntroductionCushing’s disease (CD) results from uncontrolled hypercortisolism induced by ACTH-secreting corticotroph adenomas; accordingly, patients diagnosed with CD usually present several comorbidities and an increased risk of mortality. Hypothesis-driven screenings have led to identification of rare alterations in a low number of patients, although the genetic basis underlying CD has remained unclear until recently. Using whole-exome sequencing, recurrent mutations have been reported in the… CONTINUE READING
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